Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2N

Term ID
DOID:0110298
Synonyms
  • LGMD2N
  • MDDGC2
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
  • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/17878207
References
Ontology
Human Disease   ( DOID:0110298 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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